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Article

Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.

Molecular genetics & genomic medicine - 1 Mar 2021

Yu Yinhui, Qiao Yue, Ye Yang, Li Jinyu, Yao Ke

Abstract excerpt

BACKGROUND: This study aims to identify the underlying genetic defects of β-crystallin (CRYB) genes responsible for congenital cataracts in a group of Chinese families. METHODS: Detailed family history and clinical data of six Chinese families with autosomal dominant congenital cataracts were recorded. Targeted exome sequencing was applied to detect the underlying genetic defects for the families. Generated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33594837
DOI: 10.1002/mgg3.1617
PMCID: PMC8104166

Genes

CRYBB2
CRYBB3
CRYBA4
CRYBB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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